Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

Abstract

Elevated levels of atypical deoxysphingolipids, caused by variant <i>SPTLC1</i> or <i>SPTLC2</i> or by low serine levels, were risk factors for macular telangiectasia type 2, as well as for peripheral neuropathy. (Funded by the Lowy Medical Research Institute and others.).